Trombofilia primaria: detección y manifestación clínica en 105 casos

Background: Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor. Aim: To report clinical features in a series of patients with primary throm...

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Autores principales:	Srur A,Eliana, Vargas R,Cecilia, Salas F,Sergio, Parra G,Juan Andrés, Bianchi S,Víctor, Mezzano A,Diego, Muñoz V,Blanca, Vásquez L,Marcela, Pacheco A,Edith
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Antithrombin III deficiency Factor V Leyden Thrombophilia
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001200003
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spelling	oai:scielo:S0034-988720040012000032006-03-21Trombofilia primaria: detección y manifestación clínica en 105 casosSrur A,ElianaVargas R,CeciliaSalas F,SergioParra G,Juan AndrésBianchi S,VíctorMezzano A,DiegoMuñoz V,BlancaVásquez L,MarcelaPacheco A,Edith Antithrombin III deficiency Factor V Leyden Thrombophilia Background: Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor. Aim: To report clinical features in a series of patients with primary thrombophilia. Material and methods: Review of clinical records of patients with thrombotic episodes that lead to the suspicios of primary thrombophilia. Analysis of asymptomatic adult close relatives of these patients. Results: We report 93 subjects (56 females, age range 14-77 years) with repeated episodes of thrombosis and a family history of thrombosis and 12 asymptomatic close relatives. Seventy one percent had the first thrombotic episode before the age of 40 years, 62% had more than one thrombotic episode and 37% had a family history of thrombosis. Twenty four percent had protein C deficiency, 24% had antithrombin III deficiency, 18% had resistance to activated C protein by factor V Leiden, 10% had protein S deficiency, and 10% had the G20210 mutation of prothrombin gene. Among acquired defects studied simultaneously, 30% had lupus anticoagulant and 11% had hyperhomocysteinemia. Twenty four percent of cases had more than one thrombophilic risk factor. Among asymptomatic relatives, five had factor V Leiden, four had protein C deficiency and three had the G20210 mutation of prothrombin gene. Conclusions: Thrombophilia must be suspected in young subjects with thrombotic episodes and a family history. The type of coagulation defect will determine prognosis, and the type of treatment (Rev Méd Chile 2004; 132: 1466-73)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.12 20042004-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001200003es10.4067/S0034-98872004001200003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Antithrombin III deficiency Factor V Leyden Thrombophilia
spellingShingle	Antithrombin III deficiency Factor V Leyden Thrombophilia Srur A,Eliana Vargas R,Cecilia Salas F,Sergio Parra G,Juan Andrés Bianchi S,Víctor Mezzano A,Diego Muñoz V,Blanca Vásquez L,Marcela Pacheco A,Edith Trombofilia primaria: detección y manifestación clínica en 105 casos
description	Background: Thrombophilia is defined as an altered hemostasis that predisposes to thrombosis. It can be primary when there is a family clustering of the disease or secondary, when it is associated to an acquired risk factor. Aim: To report clinical features in a series of patients with primary thrombophilia. Material and methods: Review of clinical records of patients with thrombotic episodes that lead to the suspicios of primary thrombophilia. Analysis of asymptomatic adult close relatives of these patients. Results: We report 93 subjects (56 females, age range 14-77 years) with repeated episodes of thrombosis and a family history of thrombosis and 12 asymptomatic close relatives. Seventy one percent had the first thrombotic episode before the age of 40 years, 62% had more than one thrombotic episode and 37% had a family history of thrombosis. Twenty four percent had protein C deficiency, 24% had antithrombin III deficiency, 18% had resistance to activated C protein by factor V Leiden, 10% had protein S deficiency, and 10% had the G20210 mutation of prothrombin gene. Among acquired defects studied simultaneously, 30% had lupus anticoagulant and 11% had hyperhomocysteinemia. Twenty four percent of cases had more than one thrombophilic risk factor. Among asymptomatic relatives, five had factor V Leiden, four had protein C deficiency and three had the G20210 mutation of prothrombin gene. Conclusions: Thrombophilia must be suspected in young subjects with thrombotic episodes and a family history. The type of coagulation defect will determine prognosis, and the type of treatment (Rev Méd Chile 2004; 132: 1466-73)
author	Srur A,Eliana Vargas R,Cecilia Salas F,Sergio Parra G,Juan Andrés Bianchi S,Víctor Mezzano A,Diego Muñoz V,Blanca Vásquez L,Marcela Pacheco A,Edith
author_facet	Srur A,Eliana Vargas R,Cecilia Salas F,Sergio Parra G,Juan Andrés Bianchi S,Víctor Mezzano A,Diego Muñoz V,Blanca Vásquez L,Marcela Pacheco A,Edith
author_sort	Srur A,Eliana
title	Trombofilia primaria: detección y manifestación clínica en 105 casos
title_short	Trombofilia primaria: detección y manifestación clínica en 105 casos
title_full	Trombofilia primaria: detección y manifestación clínica en 105 casos
title_fullStr	Trombofilia primaria: detección y manifestación clínica en 105 casos
title_full_unstemmed	Trombofilia primaria: detección y manifestación clínica en 105 casos
title_sort	trombofilia primaria: detección y manifestación clínica en 105 casos
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004001200003
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Trombofilia primaria: detección y manifestación clínica en 105 casos

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